HGVS | Genome Assembly |
---|---|
NC_000014.9:g.23413713A>G , CM000676.2:g.23413713A>G | GRCh38 |
NC_000014.8:g.23882922A>G , CM000676.1:g.23882922A>G | GRCh37 |
NC_000014.7:g.22952762A>G | NCBI36 |
NG_007884.1:g.26949T>C , LRG_384:g.26949T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000355349.4:c.5790+46T>C MANE Select | ENSP00000347507.3:n.5790+46T>C | |
ENST00000355349.3:c.5790+46T>C | ENSP00000347507.3:n.5790+46T>C | |
NM_000257.3:c.5790+46T>C | NP_000248.2:n.5790+46T>C | |
XM_017021340.1:c.5790+46T>C | XP_016876829.1:n.5790+46T>C | |
NM_000257.4:c.5790+46T>C MANE Select | NP_000248.2:n.5790+46T>C |